Hyperinsulinism in Infancy: From Basic Science to Clinical Disease

Physiological Reviews

Volumn 84, Issue 1, 2004, Pages 239-275

  Dunne, Mark J ^a   Cosgrove, Karen E ^a   Shepherd, Ruth M ^a   Aynsley Green, Albert ^a   Lindley, Keith J ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINO 4H PYRIDO[4,3 E] 1,2,4 THIADIAZINE 1,1 DIOXIDE; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; 4 (N ACETYL N HYDROXYAMINO) 6 CYANO 3,4 DIHYDRO 2,2 DIMETHYL 2H 1 BENZOPYRAN 3 OL; 6,7 DICHLORO 3 ISOPROPYLAMINO 4H 1,2,4 BENZOTHIADIAZINE 1,1 DIOXIDE; 7 CHLORO 3 ISOPROPYLAMINO 4H 1,2,4 BENZOTHIADIAZINE 1,1 DIOXIDE; ADENOSINE TRIPHOSPHATASE; BENZOTHIADIAZINE DERIVATIVE; BPDZ 154; BPDZ 44; CHLOROTHIAZIDE; CORTICOSTEROID; COUMARIN; DIAZOXIDE; EFAROXAN; GLUCAGON; GLUCOKINASE; GLUTAMATE DEHYDROGENASE; HEI 713; HEPATOCYTE NUCLEAR FACTOR 3; METHYLPREDNISOLONE; NICORANDIL; NIFEDIPINE; OCTREOTIDE; PINACIDIL; POTASSIUM CHANNEL; POTASSIUM CHANNEL STIMULATING AGENT; PREDNISOLONE; PREDNISONE; QUINOLINOL DERIVATIVE; SOMATOSTATIN DERIVATIVE; SULFONYLUREA; TRANSCRIPTION FACTOR PDX 1; UNCLASSIFIED DRUG; UNINDEXED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; BECKWITH WIEDEMANN SYNDROME; BLOOD BRAIN BARRIER; BLOOD DYSCRASIA; CATARACT; CONTROLLED STUDY; DEPOLARIZATION; ERYTHEMA; EXERCISE; GLUCOSE HOMEOSTASIS; GLUCOSE METABOLISM; HISTOPATHOLOGY; HUMAN; HYPERINSULINISM; HYPEROSMOLAR COMA; HYPERURICEMIA; HYPOTENSION; INFANCY; INFECTION; INSULIN RELEASE; LEUKOPENIA; MITOCHONDRION; MOUSE; NAUSEA; NONHUMAN; NUTRITION; OBESITY; OSTEOPOROSIS; PANCREAS ISLET BETA CELL; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SODIUM RETENTION; VOMITING; WATER RETENTION;

ANIMALS; DISEASE MODELS, ANIMAL; GLUCOSE; HUMANS; INFANT, NEWBORN; INSULIN; ISLETS OF LANGERHANS; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS;

EID: 0347359228     PISSN: 00319333     EISSN: None     Source Type: Journal    
DOI: 10.1152/physrev.00022.2003     Document Type: Review

References (338)

1. Abernethy LJ, Davidson CD, Lamont GL, Shepherd RM, and Dunne MJ. Intra-arterial calcium stimulation in the investigation of hyperinsulinaemic hypoglycaemia. Arch Dis Child 78: 359-363, 1998.
2. ATP channels. Physiol Rev 78: 227-245, 1998.
3. Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement JP, Boyd AE, Gonzalez G, Herrera-Sosa H, Nguy K, Bryan J, and Nelson DA. Cloning of the β-cell high-affinity sulphonylurea receptor: a regulator of insulin secretion. Science 268: 423-426, 1995.
4. Aizawa T, Komatsu M, Asanuma N, Sato Y, and Sharp GWG. Glucose action "beyond ionic events" in the pancreatic β-cell. Trends Pharmacol Sci 19: 496-499, 1998.
5. Al-Rabeeah A, al-Ashwal A, al-Herbish A, al-Jurayyan N, Sakati N, and Abobakr A. Persistent hyperinsulinemic hypoglycemia of infancy: experience with 28 cases. J Pediatr Surg 30: 1119-1121, 1995.
6. Antinozzi PA, Segall L, Prentki M, McGarry JD, and Newgard CB. Molecular or pharmacologic perturbation of the link between glucose and lipid metabolism is without effect on glucose-stimulated insulin secretion. A re-evaluation of the long-chain acyl-CoA hypothesis. J Biol Chem 273: 16146-16154, 1998.
7. Ashfield R and Ashcroft SJH. Cloning of the promoters for the β-cell ATP-sensitive K-channel subunits Kir6.2 and SUR1. Diabetes 47: 1274-1280, 1998.
8. Aynsley-Green A, Hussain K, Hall J, Saudubray JM, Nihoul-Fé kété C, De Lonlay-Debeney P, Brunelle F, Otonkoski T, Thornton P, and Lindley JK. The practical management of hyperinsulinism in infancy. Arch Dis Child 82: F98-F107, 2000.
9. Aynsley-Green A, Polak JM, Bloom SR, Gough MH, Keeling J, Ashcroft SJH, Turner RC, and Baum JD. Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch Dis Child 56: 496-508, 1981.
10. 2+ channels accounts for first-phase insulin secretion in mouse β-cells. Diabetes 51: S74-S82, 2002.
11. - uptake and acidification. J Cell Sci 114: 2145-2154, 2001.
12. Bas F, Darendeliler F, Demirkol D, Bundak R, Saka N, and Gunoz H. Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. J Pediatr Endocrinol Metab 12: 873-878, 1999.
13. ATP channels. Science 282: 1141-1144, 1998.
14. Bax NM, Zee DC, Vroede M, Jansen M, and Nikkels PG. Laparoscopic identification, and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. Surg Endosc. In press.
15. Bean AJ, Seifert R, Chen YA, Sacks R, and Scheller RH. Hrs-2 is an ATPase implicated in calcium-regulated secretion. Nature 385: 826-830, 1997.
16. + channels in endocrine and smooth muscle tissues. Br J Pharmacol 134: 375-385, 2001.
17. Beckwith J. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 5: 188, 1969.
18. +) permeability. Biochem Pharmacol 43: 2483-2485, 1992.
19. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, and Glaser B. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 1: 56-60, 2000.
20. Blakely ML, Lobe TE, Cohen J, and Burghen GA. Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. Surg Endosc 15: 897-898, 2001.
21. Boverie S, Antoine MH, de Tullio P, Somers F, Becker B, Sebille S, Lebrun P, and Pirotte B. Effect on insulin release of compounds structurally related to the potassium-channel opener 7-chloro-3-isopropylamino-4H-1,2,4-benzothiadiazine 1,1-dioxide (BPDZ 73): introduction of heteroatoms on the 3-alkylamino side chain of the benzothiadiazine 1,1-dioxide ring. J Pharm Pharmacol 53: 973-80, 2001.
22. Branstrom R, Corkey BE, Berggren PO, and Larsson O. Evidence for a unique long chain acyl-CoA ester binding site on the ATP-regulated potassium channel in mouse pancreatic β-cells. J Biol Chem 272: 17390-17394, 1997.
23. Bratanova-Tochkova TK, Cheng H, Daniel S, Gunawardana S, Liu YJ, Mulvaney-Musa J, Schermerhorn T, Straub SG, Yajima H, and Sharp GWG. Triggering and augmentation mechanisms, granule pools, and biphasic insulin secretion. Diabetes 51: S83-S90, 2002.
24. Brun T, Roche E, Assimacopoulos-Jeannet F, Corkey BE, Kim KH, and Prentki M. Evidence for an anaplerotic/malonyl-CoA pathway in pancreatic β-cell nutrient signalling. Diabetes 45: 190-198, 1996.
25. Brunelle F, Negre V, Barth MO, Fekete CN, Czernichow P, Saudubray JM, Kuntz F, Tach T, and Lallemand D. Pancreatic venous samplings in infants and children with primary hyperinsulinism. Pediatr Radiol 19: 100-103, 1989.
26. Bruno JF, Xu Y, Song J, and Berelowitz M. Molecular cloning and functional expression of a brain-specific somatostatin receptor. Proc Natl Acad Sci USA 89: 11151-11155, 1992.
27. Burgoyne RD and Morgan A. Secretory granule exocytosis. Physiol Rev 83: 581-632, 2003.
28. 2+-dependent exocytosis in rat pancreatic beta-cells. Diabetes 51: 2514-2521, 2002.
29. Cade A, Walters M, Puntis JW, Arthur RJ, and Stringer MD. Pancreatic exocrine and endocrine function after pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy. Arch Dis Child 79: 435-439, 1998.
30. ATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. Proc Natl Acad Sci USA 98: 2882-2887, 2001.
31. Cartier EA, Shen S, and Shyng SL. Modulation of the trafficking efficiency and functional properties of ATP-sensitive potassium channels through a single amino acid in the sulfonylurea receptor. J Biol Chem 278: 7081-7080, 2003.
32. Carty MD, Lillquist JS, Peshavaria M, Stein R, and Soeller WC. Identification of cis- and trans-active factors regulating human islet amyloid polypeptide gene expression in pancreatic β-cells. J Biol Chem 272: 11986-11993, 1997.
33. Chigot V, De Lonlay P, Nassogne MC, Laborde K, Delagne V, Fournet JC, Nihoul-Fékété C, Saudubray JM, and Brunelle F. Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy. Pediatr Radiol 31: 650-655, 2001.
34. Christesen HB, Feilberg-Jorgensen N, and Jacobsen BB. Pancreatic β-cell stimulation tests in transient and persistent congenital hyperinsulinism. Acta Paediatr 90: 1116-1120, 2001.
35. Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, and Barbetti F. The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. Diabetes 51: 1240-1246, 2002.
36. Civelek VN, Deeney JT, Kubik K, Schultz V, Tornheim K, and Corkey BE. Temporal sequence of metabolic and ionic events in glucose-stimulated clonal pancreatic β-cells (HIT). Biochem J 315: 1015-1019, 1996.
37. 2+, substrate, and ADP on oxygen consumption by permeabilized clonal pancreatic β-cells. Biochem J 318: 615-621, 1996.
38. Clark W and O'Donovan D. Transient hyperinsulinism in an asphyxiated newborn infant with hypoglycemia. Am J Perinatol 18: 175-178, 2001.
39. Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, and van den Berg IE. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 108: 457-465, 2001.
40. Cleary MA, van Raamsdonk CD, Levorse J, Zheng BH, Bradley A, and Tilghman SM. Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice. Nat Genet 29: 78-82, 2001.
41. ATP channel subunits. Neuron 18: 827-838, 1997.
42. Cochrane WA, Payne WW, Simpkiss MJ, and Woolf LI. Familial hypoglycerniahypoglycemia precipitated by amino acids. J Clin Invest 35: 411-422, 1955.
43. Combs J, Grunt J, and Brandt I. New syndrome of neonatal hypoglycaemia association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus. N Engl J Med 275: 236-243, 1966.
44. Conti LR, Radeke CM, and Vandenberg CA. Membrane targeting of ATP-sensitive potassium channel effects of glycosylation on surface expression. J Biol Chem 277: 25416-25422, 2002.
45. Corkey BE, Glennon MC, Chen KS, Deeney JT, Matschinsky FM, and Prentki M. A role for malonyl-CoA in glucose-stimulated insulin secretion from clonal pancreatic β-cells. J Biol Chem 264: 21608-21612, 1989.
46. Cosgrove KE, Antoine MH, Lee AT, Barnes PD, de Tullio P, Clayton P, McCloy R, De Lonlay P, Nihoul-Fékété C, Robert JJ, Saudubray JM, Rahier J, Lindley KJ, Hussain K, Aynsley-Green A, Pirotte B, Lebrun P, and Dunne MJ. BPDZ 154 activates adenosine 5′ -triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. J Clin Endocrinol Metab 87: 4860-4868, 2002.
47. Cosgrove KE, Gonzalez AM, Barnes PD, Lee AT, Lindley KJ, Sempoux C, Aynsley-Green A, Rooman R, Rahier J, and Dunne MJ. Low temperature-induced recovery of ATP-sensitive potassium channels in hyperinsulinism in infancy β-cells in vitro. Horm Res 58: 44P, 2002.
48. Cosgrove KE, Shepherd RM, Hashmi MN, Lindley KJ, Aynsley-Green A, Ämmälä C, and Dunne MJ. The role of calcium ions in determining insulin hypersecretion in patients with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). Horm Res 55: 15P, 1999.
49. Cretolle C, Fékété CN, Jan D, Nassogne MC, Saudubray JM, Brunelle F, and Rahier J. Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: a report of 45 cases from 1983 to 2000. J Pediatr Surg 37: 155-158, 2002.
50. Dabrowski M, Ashcroft FM, Ashfield R, Lebrun P, Pirotte B, Egebjerg J, Bondo-Hansen J, and Wahl P. The novel diazoxide analog 3-isopropylamino-7-methoxy-4H-1,2,4-benzothiadiazine 1,1-dioxide is a selective Kir6.2/SUR1 channel opener. Diabetes 51: 1896-1906, 2002.
51. Dabrowski M, Wahl P, Holmes WE, and Ashcroft FM. Effect of repaglinide on cloned beta cell, cardiac and smooth muscle types of ATP-sensitive potassium channels. Diabetologia 44: 747-756, 2001.
52. Dacou-Voutetakis C, Psychou F, and Maniati-Christidis M. Persistent hyperinsulinemic hypoglycemia of infancy: long-term results. J Pediatr Endocrinol Metab 11: 131-141, 1998.
53. Darendeliler F, Fournet JC, Bas F, Junien C, Gross MS, Bundak R, Saka N, and Gunoz H. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. J Pediatr Endocrinol Metab 15: 993-1000, 2002.
54. De Baun MR, Niemitz EL, and Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann Syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 72: 156-160, 2003.
55. Deeney JT, Gromada J, Hoy M, Olsen HL, Rhodes CJ, Prentki M, Berggren PO, and Corkey BE. Acute stimulation with long-chain acyl-CoA enhances exocytosis in insulin secreting cells (HIT T-15 and NMRI β-cells). J Biol Chem 275: 9363-9368, 2000.
56. Deeney JT, Prentki M, and Corkey BE. Metabolic control of β-cell function. Semin Cell Dev Biol 11: 267-275, 2000.
57. 2+ handling by permeabilized clonal pancreatic β-cells. J Biol Chem 267: 19840-19845, 1992.
58. Dekel B, Lubin D, Modan-Moses D, Quint J, Glaser B, and Meyerovitch J. Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism. Clin Pediatr 41: 183-186, 2002.
59. De Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, and Saudubray JM. Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet 111: 130-133, 2002.
60. De Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, and Junien C. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 100: 802-807, 1997.
61. De Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fékété C, Saudubray JM, and Robert JJ. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr 161: 37-48, 2002.
62. De Lonlay P, Poggi-Travert F, Fournet JC, Sempoux C, Dionisi Vici C, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert JJ, and Saudubray JM. Clinical features of 52 neonates with hyperinsulinism. N Engl J Med 340: 1169-1175, 1999.
63. Devedjian JC, George M, Casellas A, Pujol A, Visa J, Pelegrin M, Gros L, and Bosch F. Transgenic mice overexpressing insulin-like growth factor-II in beta cells develop type 2 diabetes. J Clin Invest 105: 731-740, 2000.
64. De Vos A, Heimberg H, Quartier E, Huypens P, Bouwens L, Pipeleers D, and Schuit F. Human and rat beta cells differ in glucose transporter but not in glucokinase gene expression. J Clin Invest 96: 2489-2495, 1995.
65. + channels in insulinoma cells: activation by somatostatin and protein kinase C and the role of cAMP. Proc Natl Acad Sci USA 86: 2971-2975, 1989.
66. DiGeorge AM and Auerbach VH. Leucine induced hypoglycemia: a review and speculations. Am J Med Sci 99: 792-801, 1960.
67. ATP channels channel inhibition by ATP requires distinct functional domains of the cytoplasmic C terminus of the pore-forming subunit. Proc Natl Acad Sci USA 95: 13953-13958, 1998.
68. Dunne MJ. Effects of pinacidil, RP 49356 and nicorandil on ATP-sensitive potassium channels in insulin-secreting cells. Br J Pharmacol 99: 487-492, 1990.
69. Dunne MJ. Ions, genes and insulin release; from basic science to clinical disease. Diabetic Med 17: 91-104, 2000.
70. + channels in insulin-secreting cells. J Membr Biol 102: 205-216, 1988.
71. Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement JP IV, Lindley KJ, Seino S, and Aguilar-Bryan L. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 336: 703-706, 1997.
72. + channels that are inhibited by ATP in an insulin-secreting cell line. FEBS Lett 208: 59-62, 1986.
73. Dunne MJ and Petersen OH. Potassium selective ion channels in insulin-secreting cells: physiology, pharmacology and their role in stimulus secretion coupling. Biochim Biophys Acta 1071: 67-82, 1991.
74. 3- and by insulin hydrolysable analogs of ATP and ADP. J Membr Biol 104: 165-177, 1988.
75. 2 action in the insulin-secreting HIT cell line. Am J Physiol Cell Physiol 268: C181-C190, 1995.
76. Eichmann D, Hufnagel M, Quick P, and Santer R. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine. Eur J Paediatr 158: 204-206, 1999.
77. Elliott M, Bayly R, Cole T, Temple IK, and Maher ER. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 46: 168-174, 1994.
78. Epstein PN, Boschero AC, Atwater I, Cai X, and Overbeek PA. Expression of yeast hexokinase in pancreatic beta cells of transgenic mice reduces blood glucose, enhances insulin secretion, and decreases diabetes. Proc Natl Acad Sci USA 89: 12038-12042, 1992.
79. Erecinska M, Bryla J, Michalik M, Meglasson MD, and Nelson D. Energy metabolism in islets of Langerhans. Biochim Biophys Acta 1101: 273-295, 1992.
80. Eriguchi N, Aoyagi S, and Hara M. Nesidioblastosis with hyperinsulinemic hypoglycemia in adults: report of two cases. Surg Today 29: 361-363, 1999.
81. Fang J, Hsu BY, MacMullen CM, Poncz M, Smith TJ, and Stanley CA. Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Biochem J 363: 81-87, 2002.
82. Ferry RJ, Kelly A, Grimberg A, Koo-McCoy S, Shapiro MJ, Fellows KE, Glaser B, Aguilar-Bryan L, Stafford DE, and Stanley CA. Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism. J Pediatr 137: 239-246, 2000.
83. Finegold DN, Stanley CA, and Baker L. Glycaemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr 96: 257-259, 1980.
84. Fong TL, Warner NE, and Kumar D. Pancreatic nesidioblastosis in adults. Diabetes Care 12: 108-114, 1989.
85. Fournet JC and Junien C. The genetics of neonatal hyperinsulinism. Horm Res 59: 30-34, 2003.
86. Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Féké té C, Saudubray JM, and Junien C. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol 158: 2177-2184, 2001.
87. Froguel P and Shulman GI. Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. J Clin Invest 98: 1755-1761, 1996.
88. Froguel P, Vaxillaire M, San F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, and Fougerousse F. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356: 162-164, 1992.
89. Froguel P and Velho G. Molecular genetics of maturity-onset diabetes of the young. Trends Endocrinol Metab 10: 142-146, 1999.
90. 2+ sensor in pancreatic β-cells. Involvement of cAMP-GEFII Rim2 Piccolo complex in cAMP-dependent exocytosis. J Biol Chem 277: 50497-50502, 2002.
91. Garner CC, Kindler S, and Gundelfinger ED. Molecular determinants of presynaptic active zones. Curr Opin Neurobiol 10: 321-327, 2000.
92. + channels in mouse B cells. J Clin Invest 89: 1288-1295, 1992.
93. Gerver WJ, Menheere PP, Schaap C, and Degraeuwe P. The effects of a somatostatin analogue on the metabolism of an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic hypoglycaemia. Eur J Pediatr 150: 634-637, 1991.
94. Ghosh A, Ronner P, Cheong E, Khalid P, and Matschinsky FM. The role of ATP and free ADP in metabolic coupling during fuel-stimulated insulin release from islet β-cells in the isolated perfused rat pancreas. J Biol Chem 266: 22887-22892, 1991.
95. Glaser B. Hyperinsulinism of the newborn. Semin Perinatol 24: 150-163, 2000.
96. Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, and Stanley CA. Familial hyperinsulinism maps to chromosome 11p14-151, 30 cM centromeric to the insulin gene. Nat Genet 7: 185-188, 1994.
97. Glaser B, Hirsch HJ, and Landau H. Persistent hyperinsulinemic hypoglycemia of infancy: long-term Octeotride treatment without pancreatectomy. J Pediatr 1233: 644-650, 1993.
98. Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, and Herold KC. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338: 226-230, 1998.
99. Glaser B and Landau H. Long-term treatment with the somatostatin analogue SMS 201-995: alternative to pancreatectomy in persistent hyperinsulinaemic hypoglycaemia of infancy. Digestion 45: 27-35, 1990.
100. Glaser B, Landau H, and Permutt MA. Neonatal hyperinsulinism. Trends Endocrinol Metab 10: 55-61, 1999.
101. Glaser B, Landau H, Smilovici A, and Nesher R. Persistent hyperinsulinaemic hypoglycaemia of infancy: long-term treatment with the somatostatin analogue Sandostatin. Clin Endocrinol 31: 71-80, 1989.
102. Glaser B, Ryan F, Donath M, Landau H, Stanley CA, Baker L, Barton DE, and Thornton PS. Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. Diabetes 48: 1652-1657, 1999.
103. Glaser B, Thornton PS, Otonkoski T, and Junien C. The genetics of neonatal hyperinsulinism. Arch Dis Child 82: 79-86, 2000.
104. Goltin R. Diazoxide therapy in the syndrome of Beckwith-Wiedemann-Coombs. J Pediatr 83: 342-343, 1973.
105. Goossens A, Gepts W, Saudubray JM, Bonnefont JP, Nihoul-Fé kété C, Heitz PU, and Kloppel G. Diffuse and focal nesidioblastosis: a clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 13: 766-775, 1989.
106. Grant DB. Serum insulin changes following administration of L-leucine to children. Arch Dis Child 43: 69-77, 1967.
107. Gribble FM, Proks P, Corkey BE, and Ashcroft FM. Mechanism of cloned ATP-sensitive potassium channel activation by oleoyl-CoA. J Biol Chem 273: 26383-26387, 1998.
108. Grimberg A, Ferry RJ Jr, Kelly A, Koo-McCoy S, Polonsky K, Glaser B, Permutt MA, Aguilar-Bryan L, Stafford D, Thornton PS, Baker L, and Stanley CA. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes 50: 322-328, 2001.
109. Guazzini B, Gaffi D, Mainieri D, Multari G, Cordera R, Bertolini S, Meschi F, and Barbetti F. Three novel missense mutations in the glucokinase gene (GSOS; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Hum Mutat 12: 136, 1998.
110. Guillam MT, Dupraz P, and Thorens B. Glucose uptake, utilization, and signalling in GLUT2-null islets. Diabetes 49: 1485-1491, 2000.
111. Haber EP, Ximenes HM, Procopio J, Carvalho CR, Curi R, and Carpinelli AR. Pleiotropic effects of fatty acids on pancreatic β-cells. J Cell Physiol 194: 1-12, 2003.
112. Hales CN and Barker DJP. Type 2 (non-insulin dependent) diabetes mellitus: the thrifty foetus hypothesis. Diabetologia 35: 595-601, 1992.
113. 2+ in cells and tissues. J Bioenerg Biomembr 23: 823-854, 1991.
114. Hanson PI, Otto H, Barton N, and Jahn R. The N-ethylmaleimide-sensitive fusion protein and α-SNAP induce a conformational change in syntaxin. J Biol Chem 270: 16955-16961, 1995.
115. Hartmann AF and Jaudon JC. Hypoglycemia. Pediatrics 11: 1, 1937.
116. Hay WW. The placenta: not just a conduit for maternal fuels. Diabetes 40: 44-50, 1991.
117. Heitz PU, Kloppel G, Hacki WH, Polak JM, and Pearse AG. Nesidioblastosis: the pathologic basis of persistent hyperinsulinemic hypoglycemia in infants. Morphologic and quantitative analysis of seven cases based on specific immunostaining and electron microscopy. Diabetes 26: 632-642, 1977.
118. Henquin JC. Triggering and amplifying pathways of regulation of insulin secretion by glucose. Diabetes 49: 1751-1760, 2000.
119. Hod M, Levy-Shiff R, Lerman M, Schindel B, Ben-Rafael Z, and Bar J. Developmental outcome of offspring of pregestational diabetic mothers. J Paediatr Endocrinol Metab 12: 867-872, 1999.
120. Horike S, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, and Oshimura M. Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. Hum Mol Genet 9: 2075-2083, 2000.
121. Howell SL and Montague W. Adenylate cyclase activity in isolated rat islets of Langerhans: effects of agents which alter rates of insulin secretion. Biochim Biophys Acta 320: 44-52, 1973.
122. 2+ channels in the β-cell. J Biol Chem 266: 837-843, 1991.
123. ATP channels in β-cells underlies its unique insulinotropic action. Eur J Pharmacol 442: 163-171, 2002.
124. Huopio H, Jaaskelainen J, Komulainen J, Miettinen R, Karkkainen P, Laakso M, Tapanainen P, Voutilainen R, and Otonkoski T. Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. J Clin Endocrinol Metab 87: 4502-4507, 2002.
125. Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, and Laakso M. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 361: 301-307, 2003.
126. Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, and Otonkoski T. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 106: 897-906, 2000.
127. + channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion. Diabetes Care 25: 101-106, 2002.
128. ATP: an inward rectifier subunit plus the sulphonylurea receptor. Science 270: 1166-1170, 1995.
129. + channels. Neuron 16: 1011-1017, 1995.
130. Ishihara H, Wang H, Drewes LR, and Wollheim CB. Over-expression of monocarboxylate transporter and lactate dehydrogenase alters insulin secretory responses to pyruvate and lactate in β-cells. J Clin Invest 104: 1621-1629, 1999.
131. Jaffe R, Hashida Y, and Yunis E. The endocrine pancreas of the neonate and infant. Perspect Pediatr Pathol 7: 137-165, 1982.
132. Jarrett RJ, Keen H, and Track N. Glucose and RNA synthesis in mammalian islets of Langerhans. Nature 213: 634-635, 1967.
133. Jonsson J, Carlsson L, Edlund T, and Edlund H. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371: 606-609, 1994.
134. Jovanovic L and Pettitt DJ. Gestational diabetes mellitus. J Am Med Assoc 286: 2516-2518, 2001.
135. 2+ channels exposed to serum from patients with type I diabetes. Science 261: 86-90, 1993.
136. Kaiser N, Corcos AP, Tur-Sinai A, Ariav Y, Glaser B, Landau H, and Cerasi E. Regulation of insulin release in persistent hyperinsulinaemic hypoglycaemia of infancy studied in long-term culture of pancreatic tissue. Diabetologia 33: 482-488, 1990.
137. + channels in rat pancreatic β-cells is modulated by ADP. FEBS Lett 208: 63-66, 1986.
138. Kalhan SC, Savin SM, and Adam PAJ. Attenuated glucose production rate in newborn infants of insulin dependent diabetic mothers. N Engl J Med 296: 375-376, 1977.
139. Kane C, Lindley KJ, Johnson PR, James RF, Milla PJ, Aynsley-Green A, and Dunne MJ. Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of β-cells to diazoxide and somatostatin. J Clin Invest 100: 1888-1893, 1997.
140. ATP channels in pancreatic β-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med 2: 1344-1347, 1996.
141. Kashfi K, Mynatt RL, and Cook GA. Hepatic carnitine palmitoyl-transferase-I has two independent inhibitory binding sites for regulation of fatty acid oxidation. Biochim Biophys Acta 1212: 245-252, 1994.
142. Kashima Y, Miki T, Shibasaki T, Ozaki N, Miyazaki M, Yano H, and Seino S. Critical role of cAMP-GEFII-Rim2 complex in incretin-potentiated insulin secretion. J Biol Chem 276: 46046-46053, 2001.
143. Kassem SA, Ariel I, Thornton PS, Scheimberg I, and Glaser B. β-Cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy. Diabetes 49: 1325-1333, 2000.
144. Kato I, Suzuki Y, Akabane A, Yonekura H, Tanaka O, Kondo H, Takasawa S, Yoshimoto T, and Okamoto H. Transgenic mice overexpressing human vasoactive intestinal peptide (VIP) gene in pancreatic beta cells. Evidence for improved glucose tolerance and enhanced insulin secretion by VIP and PHM-27 in vivo. J Biol Chem 269: 21223-21228, 1994.
145. Kelly A, Li C, Gao Z, Stanley CA, and Matschinsky FM. Glutaminolysis and insulin secretion: from bedside to bench and back. Diabetes 51: S421-S426, 2002.
146. Kelly A, Ng D, Ferry RJ Jr, Grimberg A, Koo-McCoy S, Thornton PS, and Stanley CA. Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab 86: 3724-3728, 2001.
147. Kelly A and Stanley CA. Disorders of glutamate metabolism. Ment Retard Dev Disabil Res Rev 7: 287-295, 2001.
148. Khachatryan A, Guerder S, Palluault F, Cote G, Solimena M, Valentijn K, Millet I, Flavell RA, and Vignery A. Targeted expression of the neuropeptide calcitonin gene-related peptide to beta cells prevents diabetes in NOD mice. J Immunol 158: 1409-1416, 1997.
149. Khelili S, de Tullio P, Lebrun P, Fillet M, Antoine MH, Ouedraogo R, Dupont L, Fontaine J, Felekidis A, Leclerc G, Delarge J, and Pirotte B. Preparation and pharmacological evaluation of the R- and S-enantiomers of 3-(2-butylamino)-4H- and 3-(3-methyl-2-butylamino)-4H-pyrido[4,3-e]-1,2,4-thiadiazine 1,1-dioxide, two tissue selective ATP-sensitive potassium channel openers. Bioorg Med Chem 7: 1513-1520, 2001.
150. Kim HK, Shong YK, and Han DJ. Nesidioblastosis in an adult with hyperinsulinemic hypoglycemia. Endocr J 43: 163-167, 1996.
151. Kitaura J, Miki Y, Kato H, Sakakihara Y, and Yanagisawa M. Hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia. Eur J Pediatr 158: 410-413, 1999.
152. Kloppel G, Altenahr E, and Menke B. The ultrastructure of focal islet cell adenomatosis in the newborn with hypoglycemia and hyperinsulinism. Virchows Arch A Pathol Anat Histol 366: 223-236, 1975.
153. Komatsu M, Aizawa T, Yokokawa N, Sato Y, Takasu N, and Yamada T. Mastoparan-induced hormone release from rat pancreatic islets. Endocrinology 30: 221-228, 1992.
154. Koster JC, Marshall BA, Ensor N, Corbett JA, and Nichols CG. Targeted overactivity of beta cell K(ATP) channels induces profound neonatal diabetes. Cell 100: 645-654, 2000.
155. ATP channels. Proc Natl Acad Sci USA 99: 16992-16997, 2002.
156. + channel openers, and ATP. Mol Pharmacol 59: 1086-1093, 2001.
157. Ktorza A, Bihoreau MT, Nurjhan N, Picon L, and Girard J. Insulin and glucagon during the perinatal period: secretion and metabolic effects on the liver. Biol Neonate 48: 204-220, 1985.
158. Kukuvitis A, Deal C, Arbour L, and Polychronakos C. An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. J Clin Endocrinol Metab 82: 1192-1194, 1997.
159. Kumar U, Sasi R, Suresh S, Patel A, Thangaraju M, Metrakos P, Patel SC, and Patel YC. Subtype-selective expression of the five somatostatin receptors (hSSTR1-5) in human pancreatic islet cells: a quantitative double-label immunohistochemical analysis. Diabetes 48: 77-85, 1999.
160. Küster U, Bolivensack R, and Kunz W. Control of oxidative phosphorylation by the extra-mitochondrial ATP/ADP ratio. Biochim Biophys Acta 440: 391-402, 1976.
161. Laidlaw GF. Nesidioblastoma, the islet tumor of the pancreas. Am J Pathol 14: 125-134, 1938.
162. + channel by long chain acyl CoA: a role in modulation of pancreatic β-cell glucose sensitivity. J Biol Chem 271: 10623-10626, 1996.
163. Lawson K and Dunne MJ. Peripheral channelopathies as targets for potassium channel openers. Expert Opin Invest Drugs 10: 1345-1359, 2001.
164. + channels and inhibition of insulin release: effect of BPDZ-62. J Phamacol Exp Ther 277: 156-162, 1996.
165. Lee PJ and Leonard JV. Hypoglycaemia. In: Clinical Paediatric Endocrinology (3rd ed.), edited by CGD Brook. Oxford, UK: Blackwell Science, 1995, p. 677-693.
166. Leibowitz G, Glaser B, Higazi AA, Salameh M, Cerasi E, and Landau H. Hyperinsulinemic hypoglycaemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent β-cell dysfunction at long-term follow-up. J Clin Endocrinol Metab 80: 386-392, 1995.
167. Li L, Wang J, and Drain P. The 1182 region of K(ir)6.2 is closely associated with ligand binding in K(ATP) channel inhibition by ATP. Biophys J 79: 841-852, 2000.
168. Li M, Squire JA, and Weksberg R. Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet 79: 253-259, 1998.
169. Liang Y, Kesavon P, Niswender K, Tanizawa Y, Permutt MA, Magnuson MA, and Matchinsky FM. Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem J 309: 167-173, 1995.
170. Lin Y, Ma W, and Benchimol S. Pidd, a new death-domain-containing protein, is induced by p53 and promotes apoptosis. Nature Genet 26: 122-127, 2000.
171. Lindley KJ, Dunne MJ, Kane C, Shepherd RM, Squires PE, James RFL, Johnson PRV, Eckhart S, Wakeling E, Dattani M, Milla PJ, and Aynsley-Green A. Ionic control of β-cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade? Arch Dis Childhood 74: 373-378, 1996.
172. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, and Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β. Hum Mol Genet 8: 2001-2008, 1999.
173. Lovvorn HN III, Nance ML, Ferry RJ Jr, Stolte L, Baker L, O'Neill JA Jr, Schnaufer L, Stanley CA, and Adzick NS. Congenital hyperinsulinism and the surgeon: lessons learned over 35 years. J Pediatr Surg 34: 786-792, 1999.
174. Lteif AN and Schwenk WF. Hypoglycemia in infants and children. Endocrinol Metab Clin North Am 28: 619-646, 1999.
175. Mabry CC, DiGeorge AM, and Auerbach VH. Leucine-induced hypoglycemia: clinical observations and diagnostic considerations. J Pediatr 57: 526-538, 1960.
176. MacDonald MJ. Calcium activation of pancreatic islet mitochondrial glycerol phosphate dehydrogenase. Horm Metab Res 14: 678-679, 1982.
177. MacDonald MJ. Evidence for the malate aspartate shuttle in pancreatic islets. Arch Biochem Biophys 213: 643-649, 1982.
178. Macfarlane WM, Cragg H, Docherty HM, Read ML, James RFL, Aynsley-Green A, and Docherty K. Impaired expression of transcription factor IUF1 in a cell line derived from a patient with persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis). FEBS Lett 413: 304-308, 1997.
179. MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, and Stanley CA. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine trisphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab 86: 1782-1787, 2001.
180. Maechler P and Wollheim CB. Mitochondrial function in normal and diabetic β-cells. Nature 414: 807-812, 2001.
181. Mahachoklertwattana P, Suprasongsin C, Teeraratkul S, and Preeyasombat C. Persistent hyperinsulinaemic hypoglycemia of infancy: long-term outcome following subtotal pancreatectomy. J Pediatr Endocrinol Metab 13: 37-44, 2000.
182. Majumdar S, Rossi MW, Fujiki T, Phillips WA, Disa S, Queen CF, Johnston RB Jr, Rosen OM, Corkey BE, and Korchak HM. Protein kinase C isotypes and signalling in neutrophils. Differential substrate specificities of a translocatable calcium- and phospholipid-dependent beta-protein kinase C and a phospholipid-dependent protein kinase which is inhibited by long chain fatty acyl coenzyme A. J Biol Chem 266: 9285-9294, 1991.
183. Malaisse WJ, Best L, Kawazu S, Malaisse-Lagae F, and Sener A. The stimulus-secretion coupling of glucose-induced insulin release: fuel metabolism in islets deprived of exogenous nutrients. Arch Biochem Biophys 224: 102-110, 1983.
184. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, and Krolewski AS. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23: 323-328, 1999.
185. Malm D, Giaever A, Vonen B, and Florholmen J. Cholecystokinin and somatostatin modulate the glucose-induced insulin secretion by different mechanisms in pancreatic islets. A study on phospholipase C activity and calcium requirement. Scand J Clin Lab Invest 53: 671-676, 1993.
186. Marshak S, Totary H, Cerasi E, and Melloul D. Purification of the β-cell glucose-sensitive factor that transactivates the insulin gene differentially in normal and transformed islet cells. Proc Natl Acad Sci USA 93: 15057-15062, 1996.
187. Martinez Y and Martinez R. Clinical features in the Wiedemann-Beckwith syndrome. Clin Genet 50: 272-274, 1996.
188. Matsuo M, Dabrowski M, Ueda K, and Ashcroft FM. Mutations in the linker domain of NBD2 of SUR inhibit transduction but not nucleotide binding. EMBO J 21: 4250-4258, 2002.
189. Matsuo M, Kioka N, Amachi T, and Ueda K. ATP binding properties of the nucleotide binding folds of SUR1. J Biol Chem 274: 37479-37482, 1999.
190. Matsuo M, Tanabe K, Kioka N, Amachi T, and Ueda K. Different binding properties and affinities for ATP and ADP among sulfonylurea receptor subtypes, SUR1, SUR2A and SUR2B. J Biol Chem 275: 28757-28763, 2000.
191. Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM, and Ueda K. Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. J Biol Chem 275: 41184-41191, 2000.
192. McAndrew HF, Smith V, and Spitz L. Surgical complications of pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy. J Pediatr Surg 38: 13-16, 2003.
193. McCormack JG, Longo EA, and Corkey BE. Glucose-induced activation of pyruvate dehydrogenase in isolated rat pancreatic islets. Biochem J 267: 527-530, 1990.
194. Meglasson MD and Matschinsky FM. New perspectives on pancreatic islet glucokinase. Am J Physiol Endocrinol Metab 246: E1-E13, 1984.
195. Meglasson MD and Matschinsky FM. Pancreatic islet glucose metabolism and regulation of insulin secretion. Diabetes Metab Rev 2: 163-214, 1986.
196. Meissner T, Brune W, and Mayatepek E. Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis. Eur J Pediatr 156: 754-757, 1997.
197. Meissner T, Otonkoski T, Feneberg R, Beinbrech B, Apostolidou S, Sipila I, Schaefer F, and Mayatepek E. Exercise-induced hypoglycaemic hyperinsulinism. Arch Dis Child 84: 254-257, 2001.
198. Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, and Mayatepek E. Hyperinsulinism in syndromal disorders. Acta Paediatr 90: 856-859, 2001.
199. Melloul D, Ben-Neriah Y, and Cerasi E. Glucose modulates the binding of an islet-specific factor to a conserved sequence within the rat I and the human insulin promoters. Proc Natl Acad Sci USA 90: 3865-3869, 1993.
200. Melloul D, Tsur A, and Zangen D. Pancreatic duodenal homeobox (PDX-1) in health and disease. J Pediatr Endocrinol Metab 5: 1461-1472, 2002.
201. Menni F, de Lonlay P, Sevin C, Touati G, Peigne C, Barbier V, Nihoul-Fékété C, Saudubray JM, and Robert JJ. Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics 107: 476-479, 2001.
202. ATP channel-deficient mice. Proc Natl Acad Sci USA 95: 10402-10406, 1998.
203. Miki T, Tashiro F, Iwanaga T, Nagashima K, Yoshitomi H, Aihara H, Nitta Y, Gonoi T, Inagaki N, Miyazaki J, and Seino S. Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel. Proc Natl Acad Sci USA 94: 11969-11973, 1997.
204. Miki Y, Taki T, Ohura T, Kato H, Yanagisawa M, and Hayashi Y. Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. J Pediatr 136: 69-72, 2000.
205. Miller SP, Anand GR, Karschnia EJ, Bell GI, LaPorte DC, and Lange AJ. Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. Diabetes 48: 1645-1651, 1999.
206. Miyawaki K, Yamada Y, Yano H, Niwa H, Ban N, Ihara Y, Kubota A, Fujimoto S, Kajikawa M, Kuroe A, Tsuda K, Hashimoto H, Yamashita T, Jomori T, Tashiro F, Miyazaki J, and Seino Y. Glucose intolerance caused by a defect in the enteroinsular axis: a study in gastric inhibitory polypeptide receptor knockout mice. Proc Natl Acad Sci USA 96: 14843-14847, 1999.
207. 2+ influx signals into long term substrate phosphorylation through activation of two distinct classes of protein kinase C. J Biol Chem 278: 9896-9904, 2003.
208. Molven A, Rishaug U, Matre GE, Njolstad PR, and Sovik O. Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family. Am J Med Genet 113: 40-46, 2002.
209. Moncrieff M, Lacey K, and Malleson P. Management of prolonged hypoglycaemia in Beckwith's syndrome. Postgrad Med J 53: 159-161, 1997.
210. Moulton T, Crenshaw T, Hao Y, Moosikasuwan J, Lin N, Dembitzer F, Hensle T, Weiss L, McMorrow L, Loew T, Kraus W, Gerald W, and Tycko B. Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nature Genet 7: 440-447, 1994.
211. Mulder H, Lu D, Finley J IV, An J, Cohen J, Antinozzi PA, McGarry JD, and Newgard CB. Overexpression of a modified human malonyl-CoA decarboxylase blocks the glucose-induced increase in malonyl-CoA level but has no impact on insulin secretion in INS-1-derived (832/13) β-cells. J Biol Chem 276: 6479-6484, 2001.
212. + channels. Science 272: 1950-1953, 1996.
213. Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, and Permutt MA. Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet 7: 1119-1128, 1998.
214. Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, and Permutt MA. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 46: 1743-1748, 1997.
215. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP IV, Bryan J, Aguilar-Bryan L, and Permutt MA. Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 5: 1813-1822, 1996.
216. Nguyen QA, Antoine MH, Ouedraogo R, Hermann M, Sergooris J, Pirotte B, Masereel B, and Lebrun P. In vitro and in vivo effects of new insulin releasing agents. Biochem Pharmacol 63: 515-521, 2002.
217. Nichols CG, Shyng SL, Nestorowicz A, Glaser B, Clement JP IV, Gonzalez G, Aguilar-Bryan L, Permutt MA, and Bryan J. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 272: 1785-1787, 1996.
218. 2+ concentration. J Biol Chem 264: 973-980, 1989.
219. Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, and Bell GI. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 344: 1588-1592, 2001.
220. Nuutila P. Applications of PET in diabetes research. Horm Metab Res 29: 3377-339, 1997.
221. O'Brien LK, Sims HF, Bennett MJ, and Strauss AW. A mouse model for medium and short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 23: 127P, 2000.
222. Ohlsson H, Karlsson K, and Edlund T. IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J 12: 4251-4259, 1993.
223. Olszewski S, Deeney JT, Schuppin GT, Willliams KP, Corkey BE, and Rhodes CJ. Rab3A effector domain peptides induce insulin exocytosis via a specific interaction with a cytosolic protein doublet. J Biol Chem 269: 27987-27991, 1994.
224. Otonkoski T, Ämmälä C, Huopio H, Cote GJ, Chapman J, Cosgrove KE, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, and Thomas PM. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes 48: 408-415, 1999.
225. Otonkoski T, Andersson S, and Simell O. Somatostatin regulation of β-cell function in the normal human fetuses and in neonates with persistent hyperinsulinemic hypoglycemia. J Clin Endocrinol Metab 76: 184-188, 1993.
226. Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, and Sipila I. Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes 52: 199-204, 2003.
227. Ozaki N, Shibasaki T, Kashima Y, Miki T, Takahashi K, Ueno H, Sunaga Y, Yano H, Matsuura Y, Iwanaga T, Takai Y, and Seino S. cAMP-GEFII is a direct target of cAMP in regulated exocytosis. Nat Cell Biol 2: 805-811, 2000.
228. Panesar NS, Poon CW, Liew CT, Wong GW, and Hjelm NM. Histochemical, clinical, and in vitro β-cell responses in a neonate with persistent hyperinsulinaemic hypoglycaemia of infancy. Arch Dis Child 79: F141-F144, 1998.
229. Partridge CJ, Beech DJ, and Sivaprasadarao A. Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. J Biol Chem 276: 35947-35952, 2001.
230. Parviainen AM, Puolakka J, and Kirkinen P. Antepartum findings and obstetric aspects in pregnancies followed by neonatal persistent hyperinsulinemic hypoglycemia. Am J Perinatol 19: 163-168, 2002.
231. Patel YC, Greenwood MT, Warszynska A, Panetta R, and Srikant CB. All five cloned human somatostatin receptors (hSSTR1, -5) are functionally coupled to adenylyl cyclase. Biochem Biophys Res Commun 198: 605-612, 1994.
232. Petersen HV, Serup P, Leonard J, Michelsen BK, and Madsen OD. Transcriptional regulation of the human insulin gene is dependent on the homeodomain protein STF1/IPF1 acting through the CT boxes. Proc Natl Acad Sci USA 91: 10465-10469, 1994.
233. Petersen OH and Findlay I. Electrophysiology of the pancreas. Physiol Rev 67: 1054-1116, 1987.
234. Picarella DE, Kratz A, Li CB, Ruddle NH, and Flavell RA. Insulitis in transgenic mice expressing tumour necrosis factor beta (lymphotoxin) in the pancreas. Proc Natl Acad Sci USA 89: 10036-10040, 1992.
235. Picarella DE, Kratz A, Li CB, Ruddle NH, and Flavell RA. Transgenic tumour necrosis factor (TNF)-alpha production in pancreatic islets leads to insulitis, not diabetes. Distinct patterns of inflammation in TNF-alpha and TNF-beta transgenic mice. J Immunol 150: 4136-4150, 1993.
236. Pilkis SJ, Weber IT, Harrison RW, and Bell GI. Glucokinase: structural analysis of a protein involved in susceptibility to diabetes. J Biol Chem 69: 1925-1928, 1994.
237. Porter SE, Sorenson RL, Dann P, Garcia-Ocana A, Stewart AF, and Vasavada RC. Progressive pancreatic islet hyperplasia in the islet-targeted, parathyroid hormone-related protein-overexpressing mouse. Endocrinology 139: 3743-3751, 1998.
238. Powell GL, Tippettt PS, Kiorpes TC, McMillin J, Coll KE, Schulz H, Tanaka K, Kang ES, and Shrago E. Fatty acyl CoA as an effector molecule in metabolism. Federation Proc 44: 81-84, 1985.
239. Prentki M. New insights into pancreatic β-cell metabolic signalling in insulin secretion. Eur J Endocrinol 134: 272-286, 1996.
240. Prentki M and Corkey BE. Are the β-cell signalling molecules malonyl-CoA and cystolic long-chain acyl-CoA implicated in multiple tissue defects of obesity and NIDDM? Diabetes 45: 273-283, 1996.
241. Prentki M, Joly E, El-Assaad W, and Roduit R. Malonyl-CoA signaling, lipid partitioning, and glucolipotoxicity: role in β-cell adaptation and failure in the etiology of diabetes. Diabetes 51: S405-S413, 2002.
242. Prentki M, Tornheim K, and Corkey BE. Signal transduction mechanisms in nutrient-induced insulin secretion. Diabetologia 40S: 32-41, 1997.
243. Prentki M, Vischer S, Glennon MC, Regazzi R, Deeney JT, and Corkey BE. Malonyl-CoA and long chain acyl-CoA esters as metabolic coupling factors in nutrient-induced insulin secretion. J Biol Chem 267: 5802-5810, 1992.
244. Rahier J, Falt K, Muntefering H, Becker K, Gepts W, and Falkmer S. The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia 26: 282-289, 1984.
245. Rahier J, Guiot Y, and Sempoux C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 82: F108-F112, 2000.
246. Rahier J, Sempoux C, Fournet JC, Poggi F, Brunelle F, Nihoul-Fékété C, Saudubray JM, and Jaubert F. Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology 32: 15-19, 1998.
247. Ramadan DG, Badawi MH, Zaki M, el Mazidi Z, Ismail EA, and el Anzi H. Persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis): a report from Kuwait. Ann Trop Paediatr 19: 55-59, 1999.
248. Ca channel in insulin-secreting cells. J Membr Biol 148: 111-125, 1995.
249. Roe TF, Kershnar AK, Weitzman JJ, and Madrigel LS. Beckwith's syndrome with extreme organ hyperplasia. Pediatrics 52: 372-381, 1973.
250. Rohacs T, Lopes CM, Jin T, Ramdya PP, Molnar Z, and Logothetis DE. Specificity of activation by phosphoinositides determines lipid regulation of Kir channels. Proc Natl Acad Sci USA 21: 745-750, 2003.
251. Ronner P, Naumann CM, and Friel E. Effects of glucose and amino acids on free ADP in βHC9 insulin-secreting cells. Diabetes 50: 291-300, 2001.
252. Rother KI, Matsumoto JMS, Rasmussen NH, and Schwenk WF. Subtotal pancreatectomy for hypoglycemia due to congenital hyperinsulinism: long-term follow-up of neurodevelopmental and pancreatic function. Pediatr Diabetes 2: 115-122, 2001.
253. 2+ to supramicromolar levels in a pancreatic β-cell line. Possible role in glucose and agonist-induced insulin secretion. J Biol Chem 268: 22385-22390, 1993.
254. Sadeghi-Nejad A and Graeme-Cook FM. Case records of the Massachusetts General Hospital Weekly clinicopathological exercises. Case 39-2001. A newborn girl with seizures and persistent hypoglycaemia. N Engl J Med 345: 1833-1839, 2001.
255. Sakura H, Ämmälä C, Smith PA, Gribble FM, and Ashcroft FM. Cloning and functional expression of the cDNA encoding a novel ATP-sensitive potassium channel expressed in pancreatic β-cells, brain, heart and skeletal muscle. FEBS Lett 377: 338-344, 1995.
256. Sawathiparnich P, Likitmaskul S, Angsusingha K, Nimkarn S, Chaichanwatanakul K, Laohapansang M, and Tuchinda C. Persistent hyperinsulinemic hypoglycemia of infancy: experience at Siriraj Hospital. J Med Assoc Thai 85 Suppl 2: S506-S512, 2002.
257. Schiff D, Colle E, Wells D, and Stern L. Metabolic aspects of the Beckwith-Wiedemann syndrome. J Pediatr 82: 258-262, 1973.
258. 2 site in the N-terminus. J Biol Chem. In press.
259. + channels. Diabetes 51: 875-879, 2002.
260. Scrocchi LA, Brown TJ, Maclusky N, Brubaker PL, Auerbach AB, Joyner AL, and Drucker DJ. Glucose intolerance but normal satiety in mice with a null mutation in the glucagon-like-peptide 1 receptor gene. Nature Med 11: 1254-1256, 1996.
261. Seghers V, Nakazaki M, DeMayo F, Aguilar-Bryan L, and Bryan J. Sur1 knockout mice. A model for K(ATP) channel independent regulation of insulin secretion. J Biol Chem 275: 9270-9277, 2000.
262. Seino S, Iwanaga T, Nagashima K, and Miki T. Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice. Diabetes 49: 311-318, 2000.
263. + channels. Prog Biophys Mol Biol 81: 133-176, 2003.
264. Seino Y, Yamamoto T, Inoue K, Imamura M, Kadowaki S, Kojima H, Fujikawa J, and Imura H. Abnormal facilitative glucose transporter gene expression in human islet cell tumours. J Clin Endocrinol Metab 76: 75-78, 1993.
265. Sekine N, Cirulli V, Regazzi R, Brown LJ, Gine E, Tamarit-Rodriguez J, Girotti M, Marie S, MacDonald MJ, and Wollheim. CB. Low lactate dehydrogenase and high mitochondrial glycerol phosphate dehydrogenase in pancreatic β-cells. Potential role in nutrient sensing. J Biol Chem 269: 4895-4902, 1994.
266. Sempoux C, Guiot Y, Cosgrove KE, Nenquin M, de Lonlay P, Saudubray JM, Fekete C, Robert JJ, Dunne MJ, Henquin JC, and Rahier J. A new morphological form of persistent hyperinsulinaemic hypoglycaemia of infancy: correlation of clinical and physiological data. Hormone Res 58: 44P, 2002.
267. Sempoux C, Guiot Y, and Rahier J. The focal form of persistent hyperinsulinaemic hypoglycaemia of infancy. Diabetes 50: S182-S183, 2001.
268. Service FJ, Natt N, Thompson GB, van Heerden JA, Andrews JC, Lorenz E, Terzic A, and Lloyd RV. Non-insulinoma pancreatogenous hypoglycaemia: a novel syndrome of hyperinsulinemic hypoglycaemia in adults independent of mutations in Kir6.2 and SUR1 genes. J Clin Endocrinol Metab 84: 1582-1589, 1999.
269. Shanbag P, Pathak A, Vaidya M, and Shahid SK. Persistent hyperinsulinemic hypoglycemia of infancy: successful therapy with nifedipine. Indian J Pediatr 69: 271-272, 2002.
270. ATP channels. J Biol Chem 274: 20628-20632, 1999.
271. Shepherd RM, Cosgrove KE, O'Brien RE, Barnes PD, Ämmälä C, and Dunne MJ. Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. Arch Dis Child 82: F87-F97, 2000.
272. Shilyansky J, Fisher S, Cutz E, Perlman K, and Filler RM. Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate. J Pediatr Surg 32: 342-346, 1997.
273. Shimazaki Y, Nishiki T, Omori A, Sekiguchi M, Kamata Y, Kozaki S, and Takahashi M. Phosphorylation of 25-kDa synaptosome-associated protein. Possible involvement in protein kinase C-mediated regulation of neurotransmitter release. J Biol Chem 271: 14548-14553, 1997.
274. Shimomura H, Sanke T, Hanabusa T, Tsunoda K, Furuta H, and Nanjo K. Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history. Diabetes 49: 1597-1600, 2000.
275. Shiraishi A, Yamda Y, Tsuura Y, Fijimoto S, Tsukiyama K, Mukai E, Toyoda Y, Miwa I, and Seino Y. A novel glucokinase regulator in pancreatic β-cells. Precursor of propionyl-CoA carboxylase β-subunit interacts with glucokinase and augments its activity. J Biol Chem 276: 2325-2328, 2001.
276. 2 regulation of inward rectifier K(ATP) channels. J Gen Physiol 116: 599-608, 2000.
277. ATP channels by the Kir6.2 subunit. J Gen Physiol 110: 141-153, 1997.
278. Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, and Nichols CG. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47: 1145-1151, 1998.
279. ATP channel complex. J Gen Physiol 110: 655-664, 1997.
280. ATP channels. Science 282: 1138-1141, 1998.
281. + channels in MIN-6 cells. J Physiol 532: 127-142, 2001.
282. + channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. Endocr J 47: 715-722, 2000.
283. Sovik O, Matre G, Rishaug U, Njolstad PR, and Molven A. Familial hyperinsulinemic hypoglycemia with a mutation in the gene encoding short-chain 3-hydroxyacyl CoA dehydrogenase. J Inherit Metab Dis 25: 63P, 2002.
284. Stanley C. Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab 87: 4857-4859, 2002.
285. Stanley CA and Baker L. Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics 57: 702-711, 1976.
286. Stanley CA, Fang J, Kutyna K, Hsu BYL, Ming JE, Glaser B, and Poncz M. Molecular basis and characterization of the hyperinsulinism hyperammonemia syndrome. Diabetes 49: 667-673, 2000.
287. Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, and Poncz M. Hyperinsulinism and hyperammonaemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338: 1352-1357, 1998.
288. Steenman MJ, Rainier S, Dobry CJ, Grundy P, Horon IL, and Feinberg AP. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nature Genet 7: 433-439, 1994.
289. Stoffers DA, Ferrer J, Clarke WL, and Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nature Genet 17: 138-139, 1997.
290. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, and Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nature Genet 15: 106-110, 1997.
291. ATP channel-independent pathways. Diabetes 50: 329-339, 2001.
292. ATP channel-independent signalling pathways in human islets. Diabetes 47: 758-764, 1998.
293. Straub SG, James RFL, Dunne MJ, and Sharp GWG. Glucose augmentation of mastoparan-stimulated insulin secretion in rat and human pancreatic islets. Diabetes 47: 1053-1057, 1998.
294. Straub SG and Sharp GWG. Glucose-stimulated signalling pathways in biphasic insulin secretion. Diabetes Metab Res Rev 18: 451-463, 2002.
295. Straub SG, Yajima H, Komatsu M, Aizawa T, and Sharp GWG. The effects of cerulenin, an inhibitor of protein acylation, on the two phases of glucose-stimulated insulin secretion. Diabetes 51: S91-S95, 2002.
296. Sturgess NC, Ashford ML, Cook DL, and Hales CN. The sulphonylurea receptor may be an ATP-sensitive potassium channel. Lancet 2: 474-475, 1985.
297. Sund NJ, Vatamaniuk MZ, Casey M, Ang SL, Magnuson MA, Stoffers DA, Matschinsky FM, and Kaestner KH. Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. Genes Dev 15: 1706-1715, 2001.
298. Taguchi T, Suita S, and Hirose R. Histological classification of nesidioblastosis: efficacy of immunohistochemical study of Neuronspecic enolase. J Pediatr Surg 26: 770-774, 1991.
299. Taguchi T, Suita S, Ohkubo K, and Ono J. Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. J Pediatr Surg. 37: 593-598, 2002.
300. Takeuchi Y, Matsutani A, and Oka Y. Detection of variants in the mitochondrial glycerophosphate dehydrogenase gene in Japanese NIDDM patients. Diabetologia 40: 339-343, 1997.
301. Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, and Oka Y. Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. Diabetes 49: 114-120, 2000.
302. Tanizawa Y, Nakai K, Sasaki T, Anno T, Ohta Y, Inoue H, Matsuo K, Koga M, Furukawa S, and Oka Y. Unregulated elevation of glutamate dehydrogenase activity induces glutamine-stimulated insulin secretion: identification and characterization of a GLUD1 gene mutation and insulin secretion studies with MIN6 cells over expressing the mutant glutamate dehydrogenase. Diabetes 51: 712-717, 2002.
303. ATP channels. J Biol Chem 277: 17139-17146, 2002.
304. Thomas P, Ye Y, and Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5: 1809-1812, 1996.
305. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, and Bryan J. Mutations of the sulphonylurea receptor gene in familial persistent hyperinsulinemic hypoglycaemia of infancy. Science 268: 426-429, 1995.
306. Thorens B, Guillam MT, Beermann F, Burcelin R, and Jaquet M. Transgenic re-expression of GLUT1 of GLUT2 in pancreatic beta cells rescues GLUT2-null mice from early death and restores normal glucose-stimulated insulin secretion. J Biol Chem 275: 23751-23758, 2000.
307. Tornheim K. Are metabolic oscillations responsible for normal oscillatory insulin secretion. Diabetes 46: 1375-1380, 1997.
308. Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fékété C, Czernichow P, and Saudubray JM. Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of
309. ATP currents by guanine nucleotides is mediated by different channel subunits. Proc Natl Acad Sci USA 94: 8872-8877, 1997.
310. ATP channels channel inhibition by ATP. EMBO J 17: 3290-3296, 1998.
311. + channels in the absence of the sulphonylurea receptor. Nature 387: 179-183, 1997.
312. Tusnady GE, Bakos E, Varadi A, and Sarkadi B. Membrane topology distinguishes a subfamily of the ATP-binding cassette (ABC) transporters. FEBS Lett 402: 1-3, 1997.
313. Tyrrell VJ, Ambler GR, Yeow WH, Cowell CT, and Silink M. Ten years' experience of persistent hyperinsulinaemic hypoglycaemia of infancy. J Paediatr Child Health 37: 483-488, 2001.
314. Ueda K, Komine J, Matsuo M, Seino S, and Amachi T. Cooperative binding of ATP and MgADP in the sulfonylurea receptor is modulated by glibenclamide. Proc Natl Acad Sci USA 96: 1268-1272, 1999.
315. Uhde I, Toman A, Gross I, Schwanstecher C, and Schwanstecher M. Identification of the potassium channel opener site on sulfonylurea receptors. J Biol Chem 274: 28079-28082, 1999.
316. 2+-induced insulin secretion in permeabilized HIT-T15 cells. Biochem J 270: 273-276, 1990.
317. Van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, and Maassen JA. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA[Leu(UUR)]gene. Diabetes 43: 746-751, 1994.
318. 2+-transport ATPase 3 gene (SERCA3) in Caucasian type II diabetic patients (UK Prospective Diabetes Study 48). Diabetologia 42: 1240-1243, 1999.
319. Vasavada RC, Garcia-Ocana A, Zawalich WS, Sorenson RL, Dann P, Syed M, Ogren L, Talamantes F, and Stewart AF. Targeted expression of placental lactogen in the beta cells of transgenic mice results in beta cell proliferation, islet mass augmentation, and hypoglycemia. J Biol Chem 275: 15399-15406, 2000.
320. Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, and Froguel P. Identification of nine novel mutations in the hepatocyte nuclear factor la gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet 6: 583-586, 1997.
321. Velho G, Blanche H, Vaxillaire M, Bellanne-Chantelot C, Pardini VC, Timsit J, Passa P, Deschamps I, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, and Froguel P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 40: 217-224, 1997.
322. Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, and Junien C. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia, J Clin Invest 102: 1286-1291, 1998.
323. Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, and Passa P. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356: 721-722, 1992.
324. Waeber G, Thompson N, Nicod P, and Bonny C. Transcriptional activation of the GLUT2 gene by the IPF-1/STF-1/IDX-1 Homeobox factor. Mol Endocrinol 10: 1327-1334, 1996.
325. Wald M, Lawrenz K, Luckner D, Seimann R, Mohnike K, and Schober E. Glucagon therapy as a possible cause of erythema necrolyticum migrans in two neonates with persistent hyperinsulinaemic hypoglycaemia. Eur J Pediatr 161: 600-603, 2002.
326. Wang H, Gauthier BR, Hagenfeldt-Johansson KA, Lezzi M, and Wollheim CB. Foxa2 (HNF3β) controls multiple genes implicated in metabolism: secretion coupling of glucose-induced insulin release. J Biol Chem 277: 17564-17570, 2002.
327. Watada H, Kajimoto Y, Umayahara Y, Matsuoka T, Kaneto H, Fujitani Y, Kamada T, Kawamori R, and Yamasaki Y. The human glucokinase gene β-cell-type promoter: an essential role of insulin promoter factor 1/PDX-1 in its activation in HIT-T15 cells. Diabetes 45: 1478-1488, 1996.
328. Weng E, Mortier G, and Graham J. Beckwith-Wiedemann syndrome. Clin Pediatr 34: 317-326, 1995.
329. Wiedemann H. Complexe malformatif familial avec hernie ombilicale et macroglossie-un syndrome nouveau? J Genet Hum 13: 223, 1964.
330. Williams PR, Sperling MA, and Racasa Z. Blunting of spontaneous and alanine stimulated glucagon secretion in newborn infants of diabetic mothers. J Obstet Gynaecol 133: 51-56, 1979.
331. Woldegiorgis G, Shrago E, Gipp J, and Yatvin M. Fatty acyl coenzyme A-sensitive adenine nucleotide transport in a reconstituted liposome system. J Biol Chem 256: 12297-12300, 1981.
332. 2+ and G-proteins. Diabetes Rev 4: 276-297, 1996.
333. + channel-independent pathway of glucose signalling in rat pancreatic islets. Diabetes 48: 1006-1012, 1999.
334. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, and Bell GI. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384: 458-460, 1996.
335. Yaney GC, Korchak HM, and Corkey BE. Long-chain acyl CoA regulation of protein kinase C and fatty acid potentiation of glucose-stimulated insulin secretion in clonal β-cells. Endocrinology 141: 1989-1998, 2000.
336. Yorifuji T, Muroi J, Uematsu A, Hiramatsu H, and Momoi T. Hyperinsulinism-hyperammonaemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. Human Genet 104: 476-479, 1999.
337. Zammit VA. The malonyl-CoA-long-chain acyl-CoA axis in the maintenance of mammalian cell function. Biochem J 343: 505-515, 1999.
338. ATP channels. Neuron 22: 537-548, 1999.